Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase C delta Deficiency


KIYKIM A. , ÖĞÜLÜR İ., BARIŞ S., Salzer E., Karakoc-Aydiner E., ÖZEN A. O. , ...Daha Fazla

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.35, sa.6, ss.523-526, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Konu: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s10875-015-0178-9
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Sayfa Sayıları: ss.523-526

Özet

Protein kinase C delta (PRKCD) has essential functions in controlling B-cell proliferation and apoptosis, development of B-cell tolerance and NK-cell cytolitic activity. Human PRKCD deficiency was recently identified to be causative for an autoimmune lymphoproliferative syndrome like disorder with significant B-cell proliferation particularly of immature B cells. Here we report a child with a novel mutation in PRKCD gene who presented with CMV infection and an early onset SLE-like disorder which was successfully treated with hydroxychloroquine.